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1,738 Possible Causes for Cerebellar Hypoplasia, Mental Retardation

  • Dandy-Walker Syndrome

    A young boy presented with mental retardation and seizures with extensive hairy naevi.[ncbi.nlm.nih.gov] hypoplasia, hydrocephalus, and posterior fossa cyst formation.[medical-dictionary.thefreedictionary.com] Abstract The Dandy-Walker syndrome is said to be associated with a high incidence of mental retardation and motor dysfunction leading some to suggest termination of the affected[ncbi.nlm.nih.gov]

  • Dysequilibrium Syndrome

    Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation.[ncbi.nlm.nih.gov] From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[en.wikipedia.org] Retarded motor and mental development became apparent during the first year of life. The age of unsupported walking varied from 5-21 years.[ncbi.nlm.nih.gov]

  • Lissencephaly

    We generated three types of mice with knocked-in ARX mutations associated with X-linked lissencephaly (P353R) and mental retardation [P353L and 333ins(GCG)7].[ncbi.nlm.nih.gov] A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[ncbi.nlm.nih.gov] A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al.[doi.org]

  • Aprosencephaly and Cerebellar Dysgenesis

    Mental Retardation 11 (Mrx11, Xlmr11) X-Linked Mental Retardation 12 (Mrx12, Xlmr12) X-Linked Mental Retardation 13 (Mrx13, Xlmr13) X-Linked Mental Retardation 14 (Mrx14,[neo-genetics.com] This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[en.wikipedia.org] Retardation, Autosomal Recessive 13 Mental Retardation, Autosomal Recessive 5 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted Mental Retardation, X-Linked,[familydiagnosis.com]

  • Hoyeraal-Hreidarsson Syndrome

    Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia.[ncbi.nlm.nih.gov] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] […] hypoplasia, mental retardation, progressive combined immune deficiency and aplastic anaemia.[ncbi.nlm.nih.gov]

  • Congenital Merosin-Positive Muscular Dystrophy

    Here we report three cases in two families with merosin-positive congenital muscular dystrophy, mild mental retardation, bilateral cataracts and normal cranial magnetic resonance[ncbi.nlm.nih.gov] The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months.[ncbi.nlm.nih.gov] He was mentally retarded and spoke single words only.[jhu.pure.elsevier.com]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Retrusion, and Mental Retardation Sensenbrenner syndrome Shprintzen Golberg Craniosynostosis Skeletal Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal[rgd.mcw.edu] Showing of 14 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly[rarediseases.info.nih.gov] Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation syndromic X-linked intellectual disability 5 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and[rgd.mcw.edu]

  • Congenital Non-Progressive Ataxia

    Although previous studies of Gillespie syndrome have systematically reported a generalized delay of cognitive development (mental retardation or oligophrenia), psychometric[ncbi.nlm.nih.gov] Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia.[ncbi.nlm.nih.gov] In many cases, neuroimaging studies (CT scan, MRI) show cerebellar hypoplasia or atrophy, especially of the vermis, with occasional white matter changes, and diffuse atrophy[orpha.net]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    Retardation , Autosomal Dominant 20 Mental Retardation , Autosomal Dominant 35 Mental Retardation , Autosomal Dominant 36 Mental Retardation , X-Linked 102 Mental Retardation[familydiagnosis.com] hypoplasia Neuronal loss in central nervous system Hypoplasia of the brainstem Congenital contracture Hypoplasia of the pons Infantile encephalopathy Loss of Purkinje cells[mendelian.co] retardation 105 300984 300975 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99 300919 300072 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99[mnglabs.com]

  • Arnold Chiari Malformation

    At risk for vision problems, mental retardation, microcephaly, and seizure disorder.[hawaii.edu] Type IV is a form a cerebellar hypoplasia.[hon.ch] […] structures Hydrocephalus in 50% of cases due to obstruction Chiari IV (very rare) Primary cerebellar hypoplasia or agenesis Epidemiology Prevalence True incidence is estimated[unboundmedicine.com]

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